Parents of children with a chromosome 22q11.2 deletion have many questions about this genetic disorder and the many health problems associated with it. Here are some of the questions we've received from parents over the years. Be sure to check back here frequently; we'll be adding more questions and answers over time.
If you have any questions you'd like us to consider answering on this page, please contact us. (Please note: Due to the volume of questions we receive, we can't guarantee that every one we receive will be answered here on this page.)
My son has the 22q deletion syndrome. He had a cleft palate, low T-cells and a vascular ring, which encircled the trachea and esophagus.
He had the vascular ring separated in January 1999 and began stuttering immediately after the surgery. The stuttering comes and goes and is particularly severe when he is sick. He also gets very hoarse when he is ill. His doctors are now considering the possibility that the superior laryngeal nerve was damaged in some way, perhaps during the surgery. What information can you give me about this?
Elizabeth Goldmuntz, MD (Attending Cardiologist), Patrick S. Pasquariello Jr., MD, (Director, Diagnostic Center) and Ian N. Jacobs, MD (Attending Surgeon and Director, Pediatric Airway Program) respond:
We feel that your child would benefit from a laryngeal nerve evaluation by an Ear, Nose and Throat specialist. In addition, a consultation with a Speech and Language Pathologist would be appropriate to assess your son's stuttering. All three of our specialists agree that the stuttering is unlikely to be related to the vascular ring or its repair.
Is there an increased incidence of dental cavities in children diagnosed with the 22q deletion?
Rosario F. Mayro, DMD, DDS (Orthodontist and Dental Director, Facial Reconstruction) responds:
There is a definite increase in severe dental cavities (four or more teeth with cavities or stainless steel crowns) in children with the 22q deletion. Initially, we thought this might be connected to an increased incidence of gastric reflux in these children. However, we have subsequently found that half of the children with severe cavities had gastric reflux and half did not. Research efforts will continue to search for answers to this puzzling medical question.